Transcript Genomic and Personalized Medicine

PERSONALIZED MEDICINE
IS IT THE WAY FORWARD
IN HEALTH CARE?
VINCENT S. GALLICCHIO,
PHD, DP(HON), MLS(ASCP),
FACS, FRSA, FASAHP
CLEMSON UNIVERSITY
CLEMSON, SC 29627
PERSONALIZED MEDICINE
 OUTLINE
BACKGROUND
 POTENTIAL APPLICATIONS
 CONCERNS & OPPORTUNITIES
 EDUCATION
 TRACE METALS
 HALOTHERAPY

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 Medical Model Proposing Customization of
Health Care
 All medical decisions directed to the patient
 Term first used context of genetics & genetic
information
 As all medical decisions target the patient,
PM involves the use of technology to enhance
the personalization of the patient
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 BACKGROUND
 Traditional clinical diagnosis focuses on
patient’s clinical signs and symptoms,
medical & family history & clinical laboratory
data
 This is a reactive approach
treatment/medication starts after symptoms
appear
 Advances in genetics (Human Genome
Project) have advanced our understanding of
the impact of genetics on human disease
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 POTENTIAL APPLICATIONS
 Improves understanding of role of genes in
normal human development & physiology
 Identifies single nucleotide polymorphisms
(SNPs)
 SNPs account for genetic variability between
individuals
 Allows use of genome-wide association
studies (GWAS) to examine genetic variation
& risk for many common diseases
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 Impact on medications - pharmaceuticals
 Developed based upon empiric observations
 Examples, antibiotics developed to inhibit
growth of microbes
 Drugs for high blood pressure designed to act
on pathways involved in hypertension
 Medications for high cholesterol target
absorption & metabolism of cholesterol
 Drugs for diabetes target improving insulin
release & use by tissues
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 Pharmacogenetics
 Advances in molecular biology & genetics =
molecular medicine
 Created “companion diagnostics” = proteins,
genes & specific mutations are assayed in a
patient creating specialized individual
treatments
 Doing so stratifies disease status in patients
 Allows for proper medications & dosages
 Allows for detecting risk factors
 Allows for prevention strategies
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 Pharmacogenetics (pharmacogenomics)
 Field of study examines impact of genetic variation &
drug responses via biomarkers
 Aims to optimizing proper drug therapy @ dosage for
patients – increasing efficacy & safety
 Other benefits – by monitoring biomarkers - reduces
time, cost & failure rates in clinical trials in
developing new medications
 Increases opportunities to develop novel therapeutics
 Example – genotyping variants of Cytochrome P450
involved in metabolism of warfarin (Coumadin)
PERSONALIZED MEDICINE
 Proteomics
 Analysis & characterization of proteins encoded by
the human genome – may have impact on human
disease
 DNA provides the blueprint, proteins do the work
 Functions of the cell controlled by signal transduction
mechanisms – cell growth, differentiation,
movement/localization & death
 All functions acted upon by proteins, enzymatic
activity
 Diseases, genetic influence (mutations), information
processed through action of proteins
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 Proteomics
 Development of pharmaceuticals has been targeted to
address faulty proteins not the altered genes
 Pharmacometabolomics
 Because pharmaceutical efficacy is directly related to
their metabolism by the body, knowing how effective
drug metabolites are utilized by the body in any
patient can be useful in predicting therapeutic
responses to any pharmaceutical being considered for
use
PERSONALIZED MEDICINE
 Oncology – Cancer Management
 Tumors classified based upon anatomy & pathology
 Includes examination of cellular markers in tumors
(HER2/NEU) in breast cancer
 New molecular testing methods (biomarkers) to
identify altered genes & proteins related to tumors
 Improved diagnosis & improved therapeutics
 Cancer genetics – identification of altered genes
related to increased predisposition to certain cancers
 Familial cancers account for up to 10% of all cancers
PERSONALIZED MEDICINE
 Personalized Management of Cancer
 Testing for BCRA1 & BCRA2 mutations for heredity
breast-ovarian cancers
 Minimal residual disease (MRD) identifying tumor
markers to quantify residual presence of tumor tissue
 Targeted therapy used to pinpoint therapeutics to
specific molecular pathway in diseased tissue
Herceptin (trastuzumab) for women with breast cancer
where HER2 protein is overexpressed
 Tyrosine kinase inhibitors (imatinib/Gleevac) in CML
where BCR-ABL fusion gene is overexpressed (95%
cases)

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 Customized Pharmaceutical Products
 Compound pharmacy – oral medications
 Less common service available through local
pharmacies “polypills” can be obtained via MailOrder
 Hospital pharmacies still combine meds for i.v. use
 New using “laser-jet” technology. Each compound
dissolved in a solvent
 As long as prescribed medication/dosage is within
patient’s profile, customized product does not require
FDA approval
PERSONALIZED MEDICINE
 NOTABLE CONCERNS & OPPORTUNITIES
 Barriers to genetic testing – what is done with the
information? Employers & insurance companies
 2008 President Bush signed “Genetic Information
Nondiscrimination Act”
 New molecular diagnostic tests may provide for
clinicians opportunity to more effectively diagnose &
monitor patient disease status
 Theranostics – developing personalized meds for
patients taking into account optimal patient response
& resistance profile - Little evidence to date therapies
being developed
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 Cost vs benefit?
 Initial costs for new diagnostic tests & individualized
therapies may be increased VS
 Use of PM meds may decrease care costs over time
 Insurance coverage? Based upon actuarial stats using
large populations; PM use based upon very small
populations, thereby lower actuarial estimates – less
attractive over short-term, should increase over-time
 For health care providers, use of PM should improve
health care delivery through more precise diagnostics
& effective therapies leading to better patient
outcomes
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 Education
 Increasing number of universities are increasing
focus on PM through their medical schools
 Sub-specialties in PM being developed at Duke,
Harvard & Mt. Sinai
 New medical school focused on approaching medical
education trough PM being developed in Arizona
through a partnership between ASU & Translational
Genomics Research Institute (TGen)
 In Connecticut, Helix Health first privatized clinical
medical practice in operation focused on PM.
Teaching medical residents on the use of PM
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 TRACE ELEMENTS – USE IN PM?
 Iron, copper, iodine, manganese, selenium,
zinc, chrome, cobalt, fluorine, lithium, nickel
and silicon are the most important ones –
ESSENTIAL for normal physiological
function(s)
 Not produced by the body
 When documented to be deficient (diet) must
be replaced & body storage replenished
PERSONALIZED MEDICINE
 HALOTHERAPY
 Therapeutic use known by the Greeks & Romans
 Mid 19th century salt mine workers in Germany &
Poland evidence less respiratory alignments
 Exposure of salt air (calcium, magnesium & sodium)
as a therapeutic to treat a variety of respiratory
diseases including asthma, bronchitis & cystic fibrosis
 Individualized treatments in a confined area,
historically in caves now in designed treatment
spaces with use of halogenerators or salt lamps to
aerosolize rock salt into ionized particles
PERSONALIZED MEDICINE
 REFERENCES
 A.Daskalaki & A.Lazakidou (2011). Quality
Assurance in Healthcare Service Delivery, Nursing
and Personalized Medicine: Technologies and
Processes. IGI Global. ISBN 978-1-61350-120-7
 Willard, H.W., and Ginsburg, G.S., (eds), (2009),
Genomic and Personalized Medicine, Academic
Press, 2009, ISBN 0-12-369420-5
 Haile, Lisa A. (2008), Making Personalized
Medicine a Reality, Genetic Engineering &
Biotechnology News Vol. 28, No. 1.
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THANK YOU FOR YOUR
ATTENTION